Varaico: Literature-Extracted Genetic Variants

GAA

1,291 papers

RefSeq Summary

This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple i...

Pfam Domains

Trefoilaa 82–130UCSCTrefoil (P-type) domain

Gal_mutarotas_2aa 155–320UCSCGlycosyl hydrolase 31 N-terminal galactose mutarotase-like domain

Glyco_hydro_31_2ndaa 361–712UCSCGlycosyl hydrolases family 31 TIM-barrel domain

Glyco_hydro_31_3rdaa 720–824UCSCGlycosyl hydrolase family 31 C-terminal domain

Gene Aliases

HGNC Name

alpha glucosidase

HGNC Previous Names

glucosidase, alpha; acid; glucosidase alpha, acid

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000152.5

p.G862R

c.2584G>C

Surrounding Variants

5 papers

NM_000152.5

p.G862R

c.2584G>A

2 papers

NM_000152.5

p.G862fs

c.2584_2585fs

3 papers

NM_000152.5

p.G862delFs

c.2585delG

1 paper

NM_000152.5

p.G862_E863delFs

c.2584_2587del4

3 papers

NM_000152.5

p.D860N

c.2578G>A

1 paper

NM_000152.5

p.D860fs

c.2578_2579fs

5 papers

NM_000152.5

p.W859*

c.2577G>A

3 papers

NM_000152.5

p.W859*

c.2576G>A

1 paper

NM_000152.5

p.D860delFs

c.2578delG

3 papers

NM_000152.5

p.E866delFs

c.2596delG

1 paper

NM_000152.5

p.L857R

c.2570T>G

1 paper

NM_000152.5

p.V867fs

c.2599_2600fs